All terms in HP
| Label | Id | Description |
|---|---|---|
| motor coordination | NBO_0000339 | |
| postcranial axial skeletal system | UBERON_0011138 | [Subdivision of the skeletal system which consists of the postcranial axial skeleton plus associated joints.] |
| axial skeleton plus cranial skeleton | UBERON_0005944 | [Subdivision of skeleton which consists of cranial skeleton, set of all vertebrae, set of all ribs and sternum[FMA, modified].] |
| Foveal photoreceptor outer segment loss on macular OCT | HP_0030615 | |
| Foveal retinal pigment epithelial loss on macular OCT | HP_0030616 | |
| Dupuytren contracture | HP_0005679 | [An abnormality of the hand resulting from contracture of the palmar fascia with a fixed flexion deformity of the metacarpophalangeal (MCP) joints and the proximal interphalangeal (PIP) joints.] |
| Foveal photoreceptor layer loss on macular OCT | HP_0030614 | |
| Retinal pigment epithelial loss on macular OCT | HP_0030611 | |
| Anterior atlanto-occipital dislocation | HP_0005678 | |
| Atlantoaxial dislocation | HP_0003414 | [Partial dislocation of the atlantoaxial joint.] |
| Bulging epiphyses | HP_0003013 | [A morphological abnormality of epiphyses whereby they are abnormally outwardly curving (protuberant).] |
| Abnormal optical coherence tomography | HP_0030603 | |
| Rudimentary postaxial polydactyly of hands | HP_0005676 | |
| Postaxial hand polydactyly | HP_0001162 | [Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).] |
| Photoreceptor outer segment loss on macular OCT | HP_0030610 | |
| hydrolase activity, hydrolyzing O-glycosyl compounds | GO_0004553 | [Catalysis of the hydrolysis of any O-glycosyl bond.] |
| Prolonged bleeding time | HP_0003010 | [Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding.] |
| Bilateral intracranial calcifications | HP_0005671 | [Deposition of calcium salts on both sides of the brain.] |
| alpha-amylase activity | GO_0004556 | [Catalysis of the endohydrolysis of (1->4)-alpha-D-glucosidic linkages in polysaccharides containing three or more alpha-(1->4)-linked D-glucose units.] |
| amylase activity | GO_0016160 | [Catalysis of the hydrolysis of amylose or an amylose derivative.] |